Beat Steinmann

发表

Table 1. [Summary of Molecular Genetic Testing used in EDS, Kyphoscoliotic Form].

Heather N. Yeowell, Beat Steinmann, 2013 .

A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

Christian Baumgartner, Daniela Baumgartner, Martin Eberle, 2006, J. Biomed. Informatics.

UNTERSUCHUNGEN DES FRUCTOSE-METABOLISMUS DER LEBER MITTELS 31 P-MAGNETRESONANZ-SPEKTROSKOPIE

Peter Boesiger, Dieter Meier, Beat Steinmann, 1991 .

New insights into the performance of human whole-exome capture platforms

Rémy Bruggmann, Gabor Matyas, Ralph Schlapbach, 2015, Nucleic acids research.

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

Catherine Boileau, Beat Steinmann, Gábor Mátyás, 2002, Human mutation.

Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database

Gabor Matyas, Christophe Béroud, Claudine Junien, 2003, Human mutation.

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

Beat Steinmann, Gábor Mátyás, Marie-Claude Addor, 2009, Human mutation.

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Miikka Vikkula, Laurence M. Boon, Andrea Superti-Furga, 2001, Cell.

Connective tissue and its heritable disorders —Molecular, genetic and medical aspects

Beat Steinmann, B. Steinmann, Peter M. Royce, 1993 .